HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65868584C>A , CM000673.2:g.65868584C>A | GRCh38 |
NC_000011.9:g.65636055C>A , CM000673.1:g.65636055C>A | GRCh37 |
NC_000011.8:g.65392631C>A | NCBI36 |
NG_012304.2:g.9351G>T | |
NG_053116.1:g.13523C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307998.11:c.773G>T MANE Select | ENSP00000309953.6:p.Cys258Phe | |
ENST00000307998.10:c.773G>T | ENSP00000309953.6:p.Cys258Phe | |
ENST00000526628.5:n.1339G>T | ||
ENST00000527969.1:n.1458G>T | ||
ENST00000528176.5:c.773G>T | ENSP00000434151.1:p.Cys258Phe | |
ENST00000531005.5:n.1767G>T | ||
ENST00000531972.5:c.773G>T | ENSP00000435295.1:p.Cys258Phe | |
ENST00000532084.5:n.199G>T | ||
NM_016938.4:c.773G>T | NP_058634.4:p.Cys258Phe | |
NR_037718.1:n.1032G>T | ||
NM_016938.5:c.773G>T MANE Select | NP_058634.4:p.Cys258Phe | |
NR_037718.2:n.898G>T |